A rare case of intrahepatic cholangiocarcinoma with tumor thrombus in the bile duct.

Intrahepatic cholangiocarcinoma (ICC) is a refractory liver malignancy; however, as its histological characteristics have been clarified, a good operative strategy for the subtypes of ICC can be expected. A 72-year-old woman was diagnosed with a large primary liver cancer with biliary tumor thrombus (BTT) and obstructive jaundice. An enhanced imaging modality showed hypervascular ICC or combined hepatocellular carcinoma (HCC).

Placenta-specific epimutation at H19-DMR among common pregnancy complications: its frequency and effect on the expression patterns of H19 and IGF2.

Background: H19 and IGF2 genes are imprinted and involved in regulating fetal and placental growth. The H19 differentially methylated region (DMR) is paternally methylated and maternally unmethylated and regulates the imprinted expression of H19 and IGF2. Epimutation at the H19-DMR in humans results in congenital growth disorders, Beckwith-Wiedemann and Silver-Russell syndromes, when erroneously its maternal allele becomes methylated and its paternal allele becomes unmethylated, respectively.

FBXW7 is involved in the acquisition of the malignant phenotype in epithelial ovarian tumors.

FBXW7 is a ubiquitin ligase that mediates ubiquitylation of oncoproteins, such as c-Myc, cyclin E, Notch and c-Jun. FBXW7 is a known tumor-suppressor gene, and mutations in FBXW7 have been reported in various human malignancies. In this study, we examined the sequences of the FBXW7 and p53 genes in 57 ovarian cancer clinical samples.

Identification of the Critical Site of Calponin 1 for Suppression of Ovarian Cancer Properties.

Background: Although several studies have demonstrated the tumor suppressive function of CNN1 (calponin 1), no studies have performed a site-specific analysis of CNN1 on tumor cell activities.

Materials And Methods: We herein studied the site-specific effects of CNN1 in ovarian cancer cells using full-length CNN1 (fCNN1), three CNN1 repeats (3CNRs), or the first CNN1 repeat (CNR1) expression vectors. Ovarian cancer cells stably expressing each construct were analyzed for in vitro proliferation, cell motility, invasion, and soft agar assays.

A definitive haplotype map of structural variations determined by microarray analysis of duplicated haploid genomes.

Complete hydatidiform moles (CHMs) are tissues carrying duplicated haploid genomes derived from single sperms, and detecting copy number variations (CNVs) in CHMs is assumed to be sensitive and straightforward methods. We genotyped 108 CHM genomes using Affymetrix SNP 6.0 (GEO#: GSE18642) and Illumina 1 M-duo (GEO#: GSE54948).

Hyperglycemia impairs left-right axis formation and thereby disturbs heart morphogenesis in mouse embryos.

Congenital heart defects with heterotaxia are associated with pregestational diabetes mellitus. To provide insight into the mechanisms underlying such diabetes-related heart defects, we examined the effects of high-glucose concentrations on formation of the left-right axis in mouse embryos. Expression of Pitx2, which plays a key role in left-right asymmetric morphogenesis and cardiac development, was lost in the left lateral plate mesoderm of embryos of diabetic dams.

SNP55, a new functional polymorphism of MDM2-P2 promoter, contributes to allele-specific expression of MDM2 in endometrial cancers.

Background: The functional single nucleotide polymorphism (SNP) in the MDM2 promoter region, SNP309, is known to be associated with various diseases, particularly cancer. Although many studies have been performed to demonstrate the mechanism of allele-specific expression (ASE) on SNP309, they have only utilized in vitro techniques. It is unknown whether ASE of MDM2 is ascribed solely to SNP309, in vivo.

[Relationships between Half-Lives of Dioxins and SNPs in AhR among Yusho Patients].

Half-lives of blood levels of 2,3,4,7,8-Pentachlorodibenzofuran (PeCDF) are varied in Yusho patients. The objective was to evaluate a relationship between half-lives of PeCDF levels and types of SNP rs10249788 of aryl hydrocarbon receptor (AHR) gene in 93 Yusho patients. Based on physical symptoms, age, sex, body mass index and other factors, we set up suitable calculation formulas to fit the actual PeCDF levels thorough rates of change in PeCDF.

Neurological outcomes in Chiari type II malformations and their correlation to morphological findings and fetal heart rate patterns: a retrospective study.

Background: Correlations among Chiari type II malformation (CMII) morphological findings, the proportion of fetal heart rate patterns corresponding to the quiet phase (QP), and neurological outcomes have yet to be investigated.

Findings: The correlations among the morphological findings (i.e.

Genomic, Epigenomic, and Transcriptomic Profiling towards Identifying Omics Features and Specific Biomarkers That Distinguish Uterine Leiomyosarcoma and Leiomyoma at Molecular Levels.

Uterine leiomyosarcoma (LMS) is the worst malignancy among the gynecologic cancers. Uterine leiomyoma (LM), a benign tumor of myometrial origin, is the most common among women of childbearing age. Because of their similar symptoms, it is difficult to preoperatively distinguish the two conditions only by ultrasound and pelvic MRI.

Aryl hydrocarbon receptor SNP -130 C/T associates with dioxins susceptibility through regulating its receptor activity and downstream effectors including interleukin 24.

Dioxins are persistent environmental pollutants that cause multiple adverse health effects in humans, mainly through binding to the ligand-activated transcription factor, aryl hydrocarbon receptor (AhR). Genetic variation in AhR may modulate the susceptibility to dioxins. In this study, we aimed to evaluate the effects of the single nucleotide polymorphism (SNP) -130 C/T in the AhR promoter on dioxin-inducible gene transcription, and to investigate interleukin-24 (IL-24) and interleukin-1β (IL-1β) as proxies for 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) exposure.

Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment.

Differential methylation between the two alleles of a gene has been observed in imprinted regions, where the methylation of one allele occurs on a parent-of-origin basis, the inactive X-chromosome in females, and at those loci whose methylation is driven by genetic variants. We have extensively characterized imprinted methylation in a substantial range of normal human tissues, reciprocal genome-wide uniparental disomies, and hydatidiform moles, using a combination of whole-genome bisulfite sequencing and high-density methylation microarrays. This approach allowed us to define methylation profiles at known imprinted domains at base-pair resolution, as well as to identify 21 novel loci harboring parent-of-origin methylation, 15 of which are restricted to the placenta.

Establishment of a new diagnostic method for hydropic villi by using TSSC3 antibody.

A total of 297 samples of hydropic villi were classified according to DNA polymorphisms as androgenetic moles, dispermic triploids, or biparental diploids. A subset of 267 appropriate samples was included in the study. Most of the macroscopically diagnosed complete mole cases were genetically androgenetic in origin.

Association of MDM2 SNP309 and TP53 Arg72Pro polymorphisms with risk of endometrial cancer.

The incidence of endometrial cancer, a common gynecological malignancy, is increasing in Japan. We have previously shown that the ER/MDM2/p53/p21 pathway plays an important role in endometrial carcinogenesis. In the present study, we investigated the effects of germline single nucleotide polymorphisms in murine double minute 2 (MDM2) SNP309, TP53 Arg72Pro, ESR1 PvuII and XbaI, and p21 codon 31 on endometrial cancer risk.

Clinical utility of augmentation index as a new parameter of peripheral circulation in human fetuses.

Background: Augmentation index (AI) is calculated from the central arterial pressure or pulse waveform and known as a parameter to evaluate arterial vascular function in adults. Patients with deterioration of peripheral circulation will demonstrate increased AI values as well as those with cardiovascular risks. It is because increased AI is caused by the early timing of the reflection wave from the periphery.

Doppler sonographic evaluation of arteriovenous shunt flow in a fetus with dural sinus malformation.

Dural sinus malformation (DSM) is a rare congenital malformation characterized by a dilated dural sinus pouch. We present a case of prenatally diagnosed DSM and propose a parameter to predict poor fetal outcome. Detailed ultrasonography at 26 weeks of our patient showed an intracranial cyst in the left posterior fossa.

Correlation between regular mouthing movements and heart rate patterns during non-rapid eye movement periods in normal human fetuses between 32 and 40 weeks of gestation.

Background: Regular mouthing movements (RMMs) are observed during fetal non-rapid eye movement (NREM) periods.

Aim: To determine the correlation between RMM and fetal heart rate (FHR) patterns during NREM periods.

Study Design: Fetal eye and mouth movements and FHR patterns were observed and recorded.

Well-differentiated villoglandular adenocarcinoma of the uterine cervix: assessment of cytological features by histological subtypes.

Objective: Well-differentiated villoglandular adenocarcinoma (VGA) of the cervix involves papillae lined by different types of epithelial cells that are histologically subclassified into endocervical, endometrioid, or intestinal subtypes. The objective of the current study was to evaluate the definite cytological features of VGA by histological subtype.

Study Design: We examined 8 cervical smears from patients confirmed to have pure VGA and classified them into the 3 histological subtypes.

The maternally expressed gene Tssc3 regulates the expression of MASH2 transcription factor in mouse trophoblast stem cells through the AKT-Sp1 signaling pathway.

Tssc3 is a maternally expressed/paternally silenced imprinted gene. Recent evidence suggests that the loss of TSSC3 results in placental overgrowth in mice. These findings showed that the TSSC3 gene functions as a negative regulator of placental growth.

Ultrasound and MR images of prenatally diagnosed bilateral congenital diaphragmatic hernia, a rare variation of CDH.

The patient referred to our hospital at 29 weeks. The detailed ultrasound study demonstrated the stomach behind the heart, the slight deviation of the heart, and the vascular connection between the right chest organ and inferior vena cava. Bilateral congenital diaphragmatic hernia was suggested and confirmed by magnetic resonance imaging.

A retrospective chart review of the perinatal period in 22 pregnancies of 16 women with Moyamoya disease.

Moyamoya disease (MMD) is characterized by severe stenoses of the arteries in the circle of Willis, which predispose the patient to brain ischemia and intracranial hemorrhage. We performed a retrospective chart review of 22 pregnancies in 16 patients with MMD at the Kyushu University Hospital. An uncomplicated Cesarean delivery was performed in nearly all patients.